A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989914



Internal ID12977675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:56077889..56090492hg38UCSC Ensembl
Innerchr17:54155250..54167853hg19UCSC Ensembl
Innerchr17:51510249..51522852hg18UCSC Ensembl
Innerchr17:51510249..51522852hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3812604
hg1912604
hg1812604
hg1712604
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751766
Supporting Variants
SamplesBEC_774
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989914
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer